Learn how Children’s Mercy Kansas City successfully analyzed samples from 960 families with suspected genetic disorders and prior negative genetic tests. Using HiFi long-read sequencing, the research team was able to obtain more data than with previous technology. They found that HiFi sequencing yielded an increased explanation rate with more than four-fold rare coding structural variants than short-read sequencing.
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Assistant Director, Molecular Genetics, Children’s Mercy Kansas City,
Assistant Professor of Pathology, University of Missouri-Kansas City School of Medicine
Director, Laboratory Operations,
Genomic Medicine Center, Children’s Mercy Kansas City